Abstract:
:Objectives: Severe congenital neutropenia (SCN) is a primary immunodeficiency disease characterized by the early onset of recurrent infections and persistent severe neutropenia, with or without genetic defect. We aimed to study the different clinical features and hematological and bone marrow characteristics of patients with SCN and the non-congenital form of severe neutropenia (SN) with unknown etiology. Methods: Thirty-nine Chinese children with severe neutropenia for longer than 6 months unrelated to virus infection or autoimmune diseases were enrolled in the study to analyse the clinical, laboratory, and molecular characteristics. They were followed clinically to observe their remission status. Results: Seven patients were found to have SCN mutations, including ELANE and G6PC3. Among 26 patients with close follow-up, one died for an unknown reason, and 10 resolved spontaneously with a median neutropenia duration of 14.5 months; these patients were designated as having recovered SN. The demographic characteristics of both groups were similar, with a median infection rate of 5 times/year. SCN patients had more frequent infection than recovered SN patients (4 times/year, P = 0.039). The median absolute neutrophil count (ANC) was 0.40 × 109/L in SCN patients, which was significantly higher than 0.2 × 109/L in SN with unknown etiology and 0.21 × 109/L in recovered SN patients (P = 0.021, P = 0.017). The median monocyte count was 1.60 × 109/L in SCN patients, which was also significantly higher than 0.57 × 109/L in SN of unknown etiology and 0.55 × 109/L in recovered SN patients (P = 0.018, P = 0.001). Bone marrow examinations demonstrated myeloid maturation arrest at the myelocyte-metamyelocyte stage in SCN patients and normal findings in SN with unknown etiology and recovered SN patients. Conclusions: Patients with severe neutropenia due to gene mutations demonstrate more serious symptoms than patients with unknown etiology. Patients with relatively higher ANC and monocyte counts are more likely to have known gene mutations. Future studies should focus on more detailed laboratory investigation, prolonged follow-up and advanced molecular biology tools to facilitate accurate diagnosis and effective treatment.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Gong RL,Wu J,Chen TXdoi
10.3389/fped.2018.00305subject
Has Abstractpub_date
2018-10-16 00:00:00pages
305issn
2296-2360journal_volume
6pub_type
杂志文章abstract::Objective: Lactate is often used as a surrogate marker of inappropriate oxygen delivery. It has been shown that hyperlactatemia is associated with worse clinical outcome in children after cardiac surgery. The purpose of this study is to evaluate the association of hyperlactatemia, low systemic oxygen delivery, and hyp...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00332
更新日期:2020-06-23 00:00:00
abstract::Background: Despite advances in technology and clinical experience, the incidence of hemostatic complications, including bleeding and thrombosis, remains high in children supported with extracorporeal membrane oxygenation (ECMO). These hemostatic complications are important to prevent, since they are associated with i...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.612467
更新日期:2020-12-16 00:00:00
abstract::Background: Although WU polyomavirus (WU) and KI polyomavirus (KI) have been demonstrated to infect the human respiratory tract, it remains unclear if WU or KI cause human disease. We sought to further investigate the relationship between WU and KI infection and respiratory disease in a pediatric population with respi...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00228
更新日期:2018-08-17 00:00:00
abstract::Abdominal lipoblastomas are uncommon soft tissue tumors in children and rarely arise from the mesentery. Due to intraabdominal location and slow growth, these masses can go unnoticed for long periods of time and often found on surgical exploration. We present a case of a 12-year-old male with years of abdominal disten...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00404
更新日期:2020-07-24 00:00:00
abstract::Introduction: Allostatic load (AL) refers to the physiological response associated with the burden of chronic stress. Excessive weight is an important source of physiological stress that promotes a detrimental chronic low-inflammation state. In order to define a correlation between cumulative biological dysregulation ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00335
更新日期:2019-08-07 00:00:00
abstract::Pediatrics, among all the branches of medicine, is a sector not particularly affected by a high number of claims. Nevertheless, the economic value of the compensation is significantly high, for example, in cases of children who suffered multiple disabilities following perinatal lesions with a long life expectancy. In ...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00229
更新日期:2020-05-27 00:00:00
abstract::A variety of surgical techniques exist for the management of urolithiasis. Minimally invasive techniques have replaced open surgery in the last few decades. For complex stone management, robotic-assisted laparoscopic surgery (RALS) has emerged as a safe and feasible alternative in adults. The literature for RALS for u...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00351
更新日期:2019-08-22 00:00:00
abstract::Hypertension after kidney transplant is a frequent occurrence in pediatric patients. It is a risk factor for graft loss and contributes to the significant burden of cardiovascular disease (CVD) in this population. The etiology of posttransplant hypertension is multifactorial including donor factors, recipient factors,...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00086
更新日期:2017-05-01 00:00:00
abstract::Puberty is a sensitive period of life characterized by the appearance of secondary sex characteristics which leads to a complete sexual maturation. It physiologically starts between the age of 8 and 13 years in girls and 9 and 14 years in boys. In the last two decades, several studies have showed that start of puberty...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00147
更新日期:2019-05-08 00:00:00
abstract::Purpose of Review: A significant number of pregnancies are complicated by a fetus with a life-limiting diagnosis. As diagnoses are made earlier in the pregnancy, families experience anticipatory grief and are faced with navigating goals of care for a baby that has yet to be born. With the support of the care team, fam...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00556
更新日期:2020-09-08 00:00:00
abstract::Introduction: The pediatric perineal microbiomes inhabit a dynamic environment with changes related to diet, toileting habits, and hormonal development. We hypothesized that next-generation sequencing would reveal different perineal bacterial signatures associated with developmental milestones in premenstrual females....
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.542413
更新日期:2020-12-08 00:00:00
abstract::Asthma is the most common chronic disease in children, imposing a consistent burden on health system. In recent years, prevalence of asthma symptoms became globally increased in children and adolescents, particularly in Low-Middle Income Countries (LMICs). Host (genetics, atopy) and environmental factors (microbial ex...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00186
更新日期:2018-06-22 00:00:00
abstract::Background: Histological chorioamnionitis (HCA) is an infection/inflammation of fetal membranes and complicates 5.2-28.5% of all live births. Exposure to HCA can have long-term consequences including abnormal neurodevelopment and an increased risk for allergic disorders and asthma later in childhood. HCA may incite ep...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00437
更新日期:2020-08-04 00:00:00
abstract::DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00426
更新日期:2019-01-21 00:00:00
abstract:BACKGROUND:Impaired sleep is associated with negative effects on quality of life and daytime functioning. Higher rates of sleep disturbance are reported in children with various developmental disorders. However, little is known about sleep in children with developmental coordination disorder (DCD), a condition characte...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00081
更新日期:2016-08-04 00:00:00
abstract::Oxidative stress results from excessive reactive oxygen species formation and/or inadequate antioxidant defense. Premature and critically ill infants are especially susceptible due to an immature intrinsic antioxidant system that cannot fully compensate for a free radical load. Oxidative stress is also associated with...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00279
更新日期:2020-06-02 00:00:00
abstract::Background: Abernethy malformation is a rare vascular anomaly of the portal venous system, which is also known as congenital portosystemic shunts (CPSS). The clinical manifestations of this anomaly can be serious, including hepatopulmonary syndrome(HPS), which can lead to significant hypoxemia and cyanosis. Case Prese...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.497447
更新日期:2020-10-27 00:00:00
abstract::Background: Oral health is important for overall health of youth, although dental service utilization is lower than national goals. The purpose of the study was to identify sociodemographic and health behavioral characteristics of youth in the United States who reported having at least one dental visit in the past 12 ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00104
更新日期:2018-05-04 00:00:00
abstract::Severe Combined Immunodeficiencies (SCID) are a heterogeneous group of monogenetic diseases. We describe the typical clinical presentation of patients with SCID as well as basic principles in diagnosis and therapy by hematopoietic stem cell transplantation. Therapeutic strategies may differ between subtypes and the in...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00481
更新日期:2019-11-19 00:00:00
abstract::Differences in the development of the male and female brain are an evolving area of investigation. We are beginning to understand the underpinnings of male and female advantages due to differences in brain development as well as the consequences following hypoxic-ischemic brain injury in the newborn. The two main fact...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00211
更新日期:2019-06-26 00:00:00
abstract::Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl w...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2017.00038
更新日期:2017-02-28 00:00:00
abstract::Premature births continue to rise globally with a corresponding increase in various morbidities among this population. Rates of respiratory distress syndrome and the consequent development of Bronchopulmonary Dysplasia (BPD) are highest among the extremely preterm infants. The majority of extremely low birth weight pr...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00214
更新日期:2020-05-08 00:00:00
abstract:OBJECTIVE:This study aimed to evaluate circulating natriuretic peptides (NP) concentration in obese and non-obese children and adolescents with and without obstructive sleep apnea (OSA), and their levels following OSA treatment. METHODS:Subjects with habitual snoring and symptoms suggestive of OSA were recruited. They...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2014.00022
更新日期:2014-03-24 00:00:00
abstract::Introduction: Hemolytic-uremic syndrome (HUS) is a common cause for intrarenal acute kidney injury in childhood. More than 90% of HUS cases are associated with an infection by Shigatoxin-producing Escherichia coli (STEC) whereas the reminder comprises a heterogeneous group (here classified as Non-STEC-HUS). Renal impa...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00220
更新日期:2018-08-07 00:00:00
abstract::Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, combined immunodeficiency, and oculocutaneous telangiectasia. The hyper-IgM phenotype of A-T, correlating with a class-switch recombination defect, IgG and IgA deficiency, T helper and B cell lymphopenia, immune dysregul...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.570330
更新日期:2020-11-19 00:00:00
abstract::Background: Percutaneous balloon valvuloplasty (PBPV) is recommended as a first-choice treatment for critical pulmonary stenosis (CPS). A concept of perinatal integrative management has been developed. Unfortunately, the evidence on the advantage of integrative management for CPS during the perinatal period is absent....
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.572238
更新日期:2020-12-21 00:00:00
abstract::Pertussis, caused by Bordetella (B.) pertussis, a Gram-negative bacterium, is a highly contagious airway infection. Especially in infants, pertussis remains a major health concern. Acute infection with B. pertussis can cause severe illness characterized by severe respiratory failure, pulmonary hypertension, leucocytos...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00052
更新日期:2016-06-08 00:00:00
abstract::It is necessary to conduct Clinical Trials in children, including for novel vaccines. Children cannot legally provide valid consent, but can assent to research participation. Informed consent and assent communications are frequently criticized for their lack of comprehensibility and often, researchers do not involve p...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.520803
更新日期:2021-01-12 00:00:00
abstract::Lung function is an important tool in the diagnosis and monitoring of patients with asthma at all ages. Airway obstruction is a typical feature of asthma and it can be assessed with several lung function techniques. Spirometry, respiratory resistance and reactance, and lung volumes are available to measure it at diffe...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00189
更新日期:2018-06-26 00:00:00
abstract::Anticoagulation is an imperfect science and is even more complicated in neonates and young children. The addition of the extracorporeal life support (ECLS) foreign circuit adds an additional layer of complexity. Anticoagulation goals during ECLS are to maintain a clot-free circuit and a hemostatically balanced patient...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00067
更新日期:2016-06-22 00:00:00